147 results about "Structural variation" patented technology

A multi-piece wheel, which is assembled with multiple pieces of pre-made structural members, including an outer wheel ring, a central hub and multiple spokes. The outer wheel ring is comprised of a circular wall for affixing a tire on its inner surface and connecting spokes on its outer surface. The spokes are the wheel intermediate members which at their respective first and second end are connected to the respective outer wheel ring and the central hub. The central hub is a circular structure including a central bore and front circular arcuate surface, wherein multiple pockets are placed on the front surface for connecting the spoke second ends to the central hub. Various structural variations of the central hub and spokes regarding their connection are also disclosed, which results in various embodiments of the present invention.

Various short reads can be grouped and identified as coming from a same long DNA fragment (e.g., by using wells with a relatively low-concentration of DNA). A histogram of the genomic coverage of a group of short reads can provide the edges of the corresponding long fragment (pulse). The knowledge of these pulses can provide an ability to determine the haploid genome and to identify structural variations.

A system and method is provided herein to fabricate openings in a semiconductor topography using feed forward control of etch process parameters. In one embodiment, a method includes measuring one or more dimensional features of a semiconductor topography to obtain pre-etch values. The method also includes determining a statistical result of the pre-etch values and adjusting one or more processing parameters if the statistical result is less than a target value. Subsequently, the method includes etching the semiconductor topography based upon the statistical result to form one or more openings in the semiconductor topography. As such, the system and method described herein fabricates openings using feed forward control of the etch process parameters to compensate for structural variations within semiconductor topographies that may exist between wafer-to-wafer and/or between lot-to-lot. In this manner, the system and method advantageously fabricates openings having profiles and dimensions, which exhibit little to no deviation from a design specification.

The invention disclosed herein describes methods for the mapping and identification of fine-structural variations in nucleic acids.

Query models for document sets (such as XML documents or records in a relational database) typically involve a schema defining the structure of the documents. However, rigidly defined schemas often raise difficulties with document validation with even inconsequential structural variations. Additionally, queries developed against schema-constrained documents are often sensitive to structural details and variations that are not inconsequential to the query, resulting in inaccurate results and development complications, and that may break upon schema changes. Instead, query models for hierarchically structured documents that enable “twig” queries specifying only the structural details of document nodes that are relevant to the query (e.g., students in a student database having a sibling named “Lee” and a teacher named “Smith,” irrespective of unrelated structural details of the document). Such “twig” query models may enable a more natural query development, and continued accuracy of queries in the event of unrelated schema variations and changes.

The invention provides primers, a method and a chip for detecting alpha and/or beta-thalassemia point mutation and deletion mutation based on whole-gene capture sequencing and application of such primers, such method and such chip. The primers, the method, the chip and application thereof have the advantages that through designing of capture probes, relevant genes involved in alpha-thalassemia and beta-thalassemia are enriched and all mutation information including SNP and indel in full-length sequences of genes is detected; through addition of autosome, X-chromosome and Y-chromosome regions as well as upstream and downstream regions of coded genes as references, structure variations such as SNV and CNV are detected; compared with existing various hotspot mutation site detection technologies, the method is capable of detecting hotspot mutation information as well as some rare mutations and undiscovered new mutation types to detect and analyze full-length sequence specificity of target genes, fully covers the mutation types and makes up the defect that a conventional detection method easily causes missing detection of low-frequency mutations and rare mutations greatly.

The invention discloses a method and a system for accurately analyzing a DMD gene structural variation breakpoint. The method includes steps of receiving of fragment sequences, initial comparison, repeat comparison, position analysis, analysis of suspected breakpoint, and in-depth correction; through the method, the type and the breakpoint position of DMD gene copy number variation can be accurately analyzed; the mean detection bias rate is less than 4 bp; the accuracy is high, and the stability is good; besides, the method and the system can cover the variation detection of an exon and an introne at the same time, solve the shortcoming that the breakpoint of the gene copy number variation cannot be accurately analyzed in the prior art, and provide technical support for realizing the rapid and parallel DMD breakpoint detection service and the study of the DMD structure gene variation molecular mechanism.

Exemplary embodiments provide methods and systems for string graph assembly of polyploid genomes. Aspects of the exemplary embodiment include receiving a string graph generated from sequence reads of at least 0.5 kb in length; identifying unitigs in the string graph and generating a unitig graph; identifying string bundles in the unitig graph; determining a primary contig from each of the string bundles; and determining associated contigs that contain structural variations compared to the primary contig.

The invention discloses a structural variation 177 (SV177) for distinguishing varieties of large white pigs and Chinese indigenous pigs. The SV177 is characterized in that the SV177 is positioned at chrX: 100561156-100562159 of a pig reference genome Sscrofa 10.2, missing genes of the SV177 are determined as D, and normal genes which are not missed are determined as A. When a detection technology provided by the invention is used for detecting the SV177 genotype of a sample, the large white pigs have three genotypes and give priority to the genes A which are not missed, and the Chinese indigenous pigs are free from a heterozygous genotype (DA) and give priority to the missing genes D; therefore, the SV177 can be used for distinguishing the varieties of the large white pigs and the Chinese indigenous pigs as a molecular marker.

In order to improve the tie between depositionally equivalent beds relative to two or more basins detected within a multi dimensional seismic volume of interest, pseudo logs based on the average of attributes derived from seismic impedance where the compaction trend is not present are created for each basin. The mean is taken over all available azimuths, following the structural variations of introduced micro layers. The correlation between the pseudo log relative to each basin enable a more reliable interpretation between the different basins from which sound exploration decision can be made. Such a process has been successfully applied to seismic data acquired in deep water environment.

The invention discloses a construction method for synthesis of warm corn artificial population Suwan-Lancaster. The construction method comprises the following steps: selecting strains respectively from Suwan and Lancaster class groups, carrying out artificial purposeful hybridization for synthesizing the warm corn Suwan-Lancaster population, carrying out open pollination under natural isolation conditions, and continuously carrying out genetic equilibrium for four times to form Suwan-Lancaster original population C0, named Sulan C0. The warm corn artificially synthesized Suwan-Lancaster population has high yield genetic gain and great population structural variation; a half sib recurrent selection method is adopted for improving the Suwan-Lancaster population for three times; and meanwhile, line selection is directly carried out on the improved population, a batch of good inbred lines are bred, and the population has the effect of promoting widening of the existing corn germplasm foundation of China.

The invention discloses a structural variation SV200 molecular marker for identifying local pig breeds. The structural variation SV200 molecular marker is characterized in that the structural variation SV200 is positioned at chr 6: 17953135-17953289 of a pig reference genome Sscrofa 10.2; a deletion fragment has the length of 155bp and is positioned in an intron 5 of an MMP-15 gene; the deletion gene of the structural variation SV200 is defined as D, a normal non-deletion gene is defined as A, and the frequency of a D gene in 5 local pig breeds is significantly higher than a corresponding value of a big white pig. The structural variation SV200 molecular marker can be used as the molecular marker for identifying the local pig breeds.

The present invention discloses a method of three-dimensional optimization design for an asymmetric cusp magnetic field in an MCZ single crystal furnace. An optimization design for structural parameters of the magnetic field comprises first establishing a three-dimensional magnetic model by using an Ansys numerical analysis software; and varying parameters of the model, determining the span between the upper and lower parts of coils, the number of transverse turns of coils and the thickness of the shield based on a set magnetic induction intensity of the magnetic field, and determining the numbers of longitudinal layers of coils in the upper and lower parts of the magnetic field. An optimization design for specification parameters of the coils of the magnetic field comprises first determining a relationship between heat and specification parameters of the coils, determining a relationship between heat transfer of the coils at the copper pipe walls and the specification parameters of the coils, analyzing the heat absorbed by cooling water, establishing an optimization model of a system, and optimizing the specification parameters of the coils of the magnetic field by using the Ansys software. According the method of the present invention, the influence of the structural variation of the magnetic field on the variation of distribution and intensity of the magnetic field is intuitively revealed in three-dimension in view of all aspects, thereby reducing develop period and experiment cost on the cusp magnetic field, and increasing the efficiency of generating magnetic induction intensity by the magnetic field.

The invention relates to a fusion detection method based on homologous genes of differential SNP markers. The fusion detection method utilizes differential SNP signals of two genes to distinguish, bypasses the difference in sequencing depth, and performs consistency comparison on each sequencing reads sequence and the homologous gene sequence by using abnormal inserted fragment length of double-ended reads and the soft clip signal of single-end reads, so as to look for a continuous consistency SNP mark and infer the breakpoint interval. The fusion detection method based on homologous genes ofdifferential SNP markers can obtain the interval where the breakpoint is located, that is, the last site of the first half and the first site of the second half, and the separation distance of the interval depends on the physical distance of the detected two sites, thus avoiding the problem that the conventional structural variation detection method encounters in the detection of repeated sequences.

The invention discloses a method for using a computer program to simulate and generate simplified DNA methylation sequencing data, which can estimate the efficiency of different simplified genome methylation (RRBS) sequencing data comparison software and the reliability of corresponding data analysis platforms so as to determine the optimal comparison method and a corresponding optimal parameter. The method simulates an RRBS library construction and sequencing process through a computer program, and generates simulation data similar to real RRBS sequencing data according to distribution of a CpGs methylation level. The simulation data simulates other characteristics such as inserting, deletion, mononucleotide variation and structural variation of the real data except for the single base group methylation level so as to enhance the authenticity. During a simulation process of RRBS sequencing, an experience error model is introduced to simulate errors during the sequencing process, and then the authenticity of the simulation data can be further enhanced.

A method for making a power device produces a power device comprising active cells having designs that vary depending on where they are located in the active area. Design variations include structural variations and variations in the material used to produce the cells.

Exemplary embodiments provide methods and systems for string graph assembly of polyploid genomes. Aspects of the exemplary embodiment include receiving a string graph generated from sequence reads of at least 0.5 kb in length; identifying unitigs in the string graph and generating a unitig graph; and identifying string bundles in the unitig graph by: determining a primary contig from each of the string bundles; and determining associated contigs that contain structural variations compared to the primary contig.

The invention provides methods for identifying rare variants near a structural variation in a genetic sequence, for example, in a nucleic acid sample taken from a subject. The invention additionally includes methods for aligning reads (e.g., nucleic acid reads) to a reference sequence construct accounting for the structural variation, methods for building a reference sequence construct accounting for the structural variation or the structural variation and the rare variant, and systems that use the alignment methods to identify rare variants. The method is scalable, and can be used to align millions of reads to a construct thousands of bases long, or longer.